Sudhisha Dubey

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BACKGROUND AND OBJECTIVES Polymorphisms of the N-acetyltransferase 2 gene (NAT2) vary remarkably between populations of different ethnic origin. The NAT2 gene determines the individual's acetylator status to metabolize drugs and xenobiotics, influencing their toxicity and efficacy profiles. This study investigates the frequencies of the most commonly(More)
BACKGROUND Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and management of CAH patients. Here we report a novel 9-bp insertion in CYP21A2 gene and its structural and(More)
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